Occult macular dystrophy

Preferred Label : Occult macular dystrophy;

Symbol : OCMD;

CISMeF acronym : OCMD; OMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OMD;

Description : Occult macular dystrophy is characterized by progressive decline of visual acuity in both eyes, associated with a normal fundus and normal fluorescein angiography. Patients have normal full-field electroretinograms (ERGs) but severely reduced focal macular ERGs, as recorded by conventional techniques using small stimuli under background illumination. OCMD patients are believed to have localized retinal dysfunction distal to the ganglion cells in the central retina (summary by Piao et al., 2000).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RP1-like protein 1 gene (RP1L1, 608581.0001);

Prefixed ID : #613587;

Details

Origin ID

613587;

UMLS CUI

C3150833;

Automatic exact mappings (from CISMeF team)
- Diabetic macular oedema [MedDRA LLT]
- Macular edema due to diabetes mellitus (disorder) [SNOMED CT concept]
- OMD Gene [NCIt concept]
- Osteomodulin [NCIt concept]
Currated CISMeF NLP mapping
- Occult macular dystrophy [ICD-11 More detail]
- Occult macular dystrophy [HPO term]
- Occult macular dystrophy [ORDO Disease]
- Occult macular dystrophy (disorder) [SNOMED CT concept]
- occult macular dystrophy [DO Concept]
DO Cross reference
- occult macular dystrophy [DO Concept]
Genes related to phenotype
- Rp1-like protein 1 [OMIM gene]
HPO term(s)
- Abnormal multifocal electroretinogram [HPO term]
- Autosomal dominant inheritance [HPO term]
- Macular dystrophy [HPO term]
- Slow decrease in visual acuity [HPO term]
Not associated HPO term(s)
- Abnormal full-field electroretinogram [HPO term]
- Abnormal fundus fluorescein angiography [HPO term]
ORDO concept(s)
- Occult macular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Occult macular dystrophy [ORDO Disease]
- Occult macular dystrophy [HPO term]
- Occult macular dystrophy (disorder) [SNOMED CT concept]
- occult macular dystrophy [DO Concept]

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